Linked Data
gnomAD v4:
21-45990473-G-GGCGTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990473_45990474insGCGTGA , CM000683.2:g.45990473_45990474insGCGTGA | GRCh38 |
| NC_000021.8:g.47410387_47410388insGCGTGA , CM000683.1:g.47410387_47410388insGCGTGA | GRCh37 |
| NC_000021.7:g.46234815_46234816insGCGTGA | NCBI36 |
| NG_008674.1:g.13725_13726insGCGTGA , LRG_475:g.13725_13726insGCGTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+51_1002+52insGCGTGA MANE Select | ENSP00000355180.3:n.1002+51_1002+52insGCGTGA | |
| ENST00000361866.7:c.1002+51_1002+52insGCGTGA | ENSP00000355180.3:n.1002+51_1002+52insGCGTGA | |
| ENST00000612273.1:c.1002+51_1002+52insGCGTGA | ENSP00000483630.1:n.1002+51_1002+52insGCGTGA | |
| NM_001848.2:c.1002+51_1002+52insGCGTGA , LRG_475t1:c.1002+51_1002+52insGCGTGA | NP_001839.2:n.1002+51_1002+52insGCGTGA | |
| NM_001848.3:c.1002+51_1002+52insGCGTGA MANE Select | NP_001839.2:n.1002+51_1002+52insGCGTGA |